P1741: EXAMINING THE BURDEN OF ILLNESS ASSOCIATED WITH TRANSFUSION-DEPENDENT ΒETA-THALASSEMIA FROM THE PATIENT’S PERSPECTIVE
Authors: R. L. Knoth, S. Gupta, K. Perkowski, H. Costantino, B. Inyart, L. Ashka, K. Clapp, A. McBride
Journal: HemaSphere (2022)

Background: β-thalassemia is a rare genetic blood disorder affecting approximately 1 in 100,000 people globally. Typically diagnosed in childhood, β-thalassemia is marked by the inability to produce hemoglobin, which results in chronic anemia. Transfusion-dependent β-thalassemia (TDβT) is the most severe form of this disorder, with treatment requiring frequent red blood cell transfusions (RBCTs). Recognized complications of the frequent RBCTs include alloimmunization, iron overload, resultant cardiac and liver disease, and reported poor health-related quality of life (HRQoL). Aims: To examine the burden of illness and HRQoL in patients diagnosed with TDβT. Methods: Potential study participants were recruited with the assistance of the Cooley’s Anemia Foundation. Participants were ≥18 years of age, had a self-reported physician diagnosis of β-thalassemia, and had received ≥1 RBCT in the past 6 months. After providing informed consent, patients completed an institutional review board-approved 30-minute online survey that included both validated patient-reported outcome instruments, and other questions written expressly for the purpose of this study. Data were collected in May 2021. Patients who completed the survey earned an incentive payment of 75 US dollars. Results: A total of 100 patients completed the survey; mean age was 36.0 years (standard deviation [SD] 10.4) and 35% of patients were male. Patients had been diagnosed with TDβT for a mean of 34.4 years (SD 10.3) and experienced a mean of 9.6 (SD 4.3) RBCT events in the past 6 months. As an indication of severity, 66% of patients reported requiring >1 RBCT per month, 31% each month, and 3% every other month. Side effects of RBCT included iron overload (in 81% of patients), rashes/hives (74%), fatigue (61%), and pain/bruising at injection site (52%). Mean time required for an RBCT was 7.4 hours (SD 11.3), including transfusion preparation time. Travel and wait times were an additional 7.1 hours. Among all patients, 70% reported a “moderate” to “extremely high” burden of RBCT. On HRQoL, 71% of patients reported “wondering what life would be like without β-thalassemia,” 86% reported “feeling fatigued” leading up to RBCT, and 42% reported “not being as social with friends/family due to the time needed for RBCT.” On validated psychological instruments, 52% of patients reported mild-to-severe depression (Patient Health Questionnaire [PHQ-9]) and 53% reported mild-to-severe anxiety (Generalized Anxiety Disorder Questionnaire [GAD-7]), over the previous 2 weeks. Summary/Conclusion: The survey results suggest there is a substantial time, side-effect, and HRQoL burden associated with treatment by RBCTs in patients diagnosed with TDβT. This includes considerable time devoted to preparing for and receiving transfusions, transfusion-related side effects, and increases in depression and anxiety. These findings contribute to the understanding of the humanistic and psychological burden of RBCT dependency in patients with β-thalassemia. New treatment options that can improve outcomes in this population are needed.